Canonical Allele Identifier: CA2907745

Gene: GABRB1

Linked Data

• dbSNP Id: rs747582639
• ExAC: 4:47408994 A / AT
• gnomAD v2: 4-47408994-A-AT
• MyVariant Identifiers: chr4:g.47408994_47408995insT (hg19) ; chr4:g.47406977_47406978insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406978dup , CM000666.2:g.47406978dup	GRCh38
NC_000004.11:g.47408995dup , CM000666.1:g.47408995dup	GRCh37
NC_000004.10:g.47103752dup	NCBI36
NG_051831.1:g.380701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+52dup MANE Select	ENSP00000295454.3:n.1080+52dup
ENST00000295454.7:c.1080+52dup	ENSP00000295454.3:n.1080+52dup
NM_000812.3:c.1080+52dup	NP_000803.2:n.1080+52dup
XM_011513678.1:c.1059+52dup	XP_011511980.1:n.1059+52dup
XM_017007985.1:c.429+52dup	XP_016863474.1:n.429+52dup
XM_024453976.1:c.981+52dup	XP_024309744.1:n.981+52dup
XM_024453977.1:c.981+52dup	XP_024309745.1:n.981+52dup
XM_024453978.1:c.981+52dup	XP_024309746.1:n.981+52dup
NM_000812.4:c.1080+52dup MANE Select	NP_000803.2:n.1080+52dup